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Severe neurological manifestations in an Egyptian patient with a novel frameshift mutation in the Glutaryl-CoA dehydrogenase gene
(
Springer US
, 2016 , Article)
Abstract To characterize an Egyptian patient with glutaric
acidemia type I (GA I) and to identify the causative mutation(
s) that may be responsible for the disease phenotype.
MRI was performed on the patient using the ...
The Arab genome: Health and wealth
(
Elsevier B.V.
, 2016 , Article)
The 22 Arab nations have a unique genetic structure, which reflects both conserved and diverse gene pools due to the prevalent endogamous and consanguineous marriage culture and the long history of admixture among different ...
Genetic Epidemiology of Type 1 Diabetes in the 22 Arab Countries.
(
Current Medicine Group
, 2016 , Article)
Type 1 diabetes (T1D) is a complex autoimmune disorder that results from the T cell-mediated destruction of the pancreatic β cells and is due to interactions between environmental and genetic factors. Although Arabs have ...
Epidemiology of diabetic ketoacidosis in Arab patients with type 1 diabetes: a systematic review.
(
Wiley
, 2016 , Article)
Diabetic ketoacidosis (DKA) is an acute and risky complication of type 1 diabetes. The aim of this study is to build the overall rate of DKA in Arab patients with type 1 diabetes in the 22 Arab nations. This is expected ...
The Qatar genome project: translation of whole-genome sequencing into clinical practice.
(
Wiley
, 2016 , Article)
Qatar Genome Project was launched in 2013 with the intent to sequence the genome of each Qatari citizen in an effort to protect Qataris from the high rate of indigenous genetic diseases by allowing the mapping of disease-causing ...
Novel mutation in an Egyptian patient with infantile Canavan disease.
(
Springer Verlag (Germany)
, 2016 , Article)
Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation ...
Structural modeling of p.V31F variant in the aspartoacylase gene.
(
Springer Verlag
, 2016 , Article)
Aspartoacylase (ASPA) is an abundant enzyme in the brain, which catalyzes the conversion of N-acetylaspartate into acetate and aspartate, deficiency in its activity leads to degeneration of the white matter of the brain ...
Enhanced Identification of Transcriptional Enhancers Provides Mechanistic Insights into Diseases.
(
Cell Press
, 2016 , Article)
Enhancers are distal cis-regulatory DNA elements that increase the expression of target genes. Various experimental and computational approaches including chromatin signature profiling have been developed to predict enhancers ...
Accredited genetic testing in the Arab Gulf region: reinventing the wheel.
(
Nature Publishing Group
, 2016 , Article)
Accredited genetic testing in the Arab Gulf region: reinventing the wheel.
Novel 1,5-diphenyl-6-substituted 1H-pyrazolo[3,4-d]pyrimidin-4(5H)-ones induced apoptosis in RKO colon cancer cells
(
Taylor and Francis Ltd
, 2016 , Article)
Novel 1,5-diphenyl-6-substituted-1H-pyrazolo[3,4-d]pyrimidin-4(5H)-ones were synthesized and characterized. All compounds were screened for their anti-proliferative activities in five different cancer cell lines. The results ...